Update on role of agalsidase alfa in management of Fabry disease

by Uma Ramaswami
Published 2011-03-01

Editorial: Genetics of Familial Hypercholesterolemia: New Insight

by Alpo Vuorio, Alpo Vuorio, Uma Ramaswami, Uma Ramaswami, Kirsten B. Holven, Kirsten B. Holven
Published 2021-05-01

Fabry disease and incidence of cancer

by Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes
Published 2017-09-01

Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

by Jacqueline Adam, Rachel Malone, Sioned Lloyd, Jennifer Lee, Christian J. Hendriksz, Uma Ramaswami
Published 2019-09-01

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

by Michael Beck, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Uma Ramaswami, Michael L. West, Roberto Giugliani
Published 2018-03-01

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide

by Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Published 2021-01-01

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

by Michael Beck, Derralynn Hughes, Christoph Kampmann, Sylvain Larroque, Atul Mehta, Guillem Pintos-Morell, Uma Ramaswami, Michael West, Anna Wijatyk, Roberto Giugliani
Published 2015-06-01

A 15-Year Perspective of the Fabry Outcome Survey

by Roberto Giugliani MD, PhD, Dau-Ming Niu MD, PhD, Uma Ramaswami MD, Michael West MD, Derralynn Hughes MD, Christoph Kampmann MD, PhD, Guillem Pintos-Morell MD, PhD, Kathleen Nicholls MD, Jörn-Magnus Schenk MD, PhD, Michael Beck MD
Published 2016-09-01

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

by Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
Published 2015-01-01

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...

by Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Published 2020-10-01

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

by Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami
Published 2020-11-01

Consensus clinical management guidelines for Niemann-Pick disease type C

by Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Published 2018-04-01